SOVREMENNAYA PEDIATRIYA.2018.6(94):103-107; doi 10.15574/SP.2018.94.103

Tsymbalista O. L., Vovk Z. V.
SHEI «Ivano–Frankivsk National Medical University», Ukraine

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease. The disease manifests itself in neonates through gastrointestinal disorders, skeletal and haematologic abnormalities. Within the first year of life, clinical picture is characterized by malassimilation syndrome due to exocrine pancreatic insufficiency. Psychomotor retardation progresses with age. Cardiomyopathy is rarely seen. Delayed puberty is typical. Blood system: absolute neutropaenia reduced neutrophil chemotaxis; normochromic, normocytic or macrocytic anaemia; often thrombocytopaenia; myeloblastic leukaemia. With age, both frequency and severity of the clinical course of local and systemic infections increases. Systemic skeletal diseases, osteoporosis lead to the development of various orthopaedic diseases. In addition to phagocytosis pathology, cellular and humoral immune deficiencies are involved as well. To treat Shwachman-Diamond syndrome, syndromic approach is used. Malassimilation syndrome is treated with a diet, enzyme replacement therapy as in cystic fibrosis. To treat neutropaenia, the preparations of granulocyte-colony stimulating factor are used. Antiviral, antimicrobial agents should be used only when indicated. Antibiotics causing bone marrow suppression are contraindicated. In severe neutropaenia, probiotics are contraindicated. The issue of bone marrow stem cell transplantation remains controversial.

Key words: children, malassimilation, bony skeleton, blood system.

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Article received: Mar 16, 2018. Accepted for publication: Oct 21, 2018.